Genetic and host factors for dementia in Down's syndrome
Open accessAbstract
Background: The high risk for dementia in adults with Down's syndrome has been attributed to triplication and overexpression of the gene for amyloid precursor protein (APP). But the wide variation in age at onset must be due to other risk factors. Aims: To identify factors which influence age at onset of dementia in Down's syndrome. Method: Studies of factors which influence formation of beta-amyloid (Aβ) were reviewed, including atypical karyotypes, susceptibility genotypes, gender and oestrogen deficiency, and individual differences in Aβ peptide levels. Results: The apolipoprotein E $4 allele, oestrogen deficiency and high levels of Aβl-42 peptide are associated with earlier onset of dementia, while atypical karyotypes and the apolipoprotein E $2 allele are associated with reduced mortality and reduced risk of dementia. Conclusions: Factors which influence Aβ levels, rather than overexpression of APP, may account for the differences in age at onset of dementia in Down's syndrome.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
People with Down syndrome are the largest human population with a genetic predisposition to early-onset Alzheimer's disease, largely explained by the presence of the APP gene on chromosome 21.
“People with DS are the largest human population with a genetic predisposition to early-onset AD, which is largely explained by the presence of the APP gene on chr2173.”
From Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation (2017) · cites this paper as [73]
The paper’s Background and Amyloid Cascade Hypothesis sections link the high risk of Alzheimer’s-related dementia in Down syndrome to triplication and overexpression of APP on chromosome 21, while noting that other factors affect the age of onset. Our copy does not establish that people with Down syndrome are the largest human population with this genetic predisposition. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
No citation lists for this paper
No citation lists for this paper yet — checked again daily.
References 85 · Cited by 188
- Authors
- Schupf, N.
- Affiliations
- Columbia University (US)
- Corresponding author
- Schupf, Nicole
- ORCID
- Schupf, Nicole
- Venue
- British Journal of Psychiatry
- Publisher
- Royal College of Psychiatrists
- Published
- 2002-05
- Volume
- 180
- Issue
- 5
- Pages
- 405-410
- ISSN
- 0007-1250 (ISSN-L)
- 1472-1465
- OpenAlex
- W2164344373
- Cited by
- 188
- References
- 85
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 3 · 2023: 2 · 2022: 5 · 2021: 11 · 2020: 8 · 2019: 6 · 2018: 10 · 2017: 6 · 2016: 14 · 2015: 13 · 2014: 17 · 2013: 6 · 2012: 7
- FWCI
- 1.41
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The British Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG14673, R01AG014673, P50AG008702, P50AG08702)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 35897, P01HD035897)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Down syndrome, dementia, age of onset, amyloid precursor protein, amyloid-beta, APOE ε4, estrogen deficiency, gender differences, amyloid-beta 42, genetic risk factors, host factors
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Down Syndrome, Estrogens, Humans, Sex Factors, Amyloid beta-Peptides, Age of Onset, Genetic Predisposition to Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
